Gene: CLTC ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083

2017
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR CLTC as a clinically novel gene associated with multiple malformations and developmental delay. 26822784

2016
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR A draft map of the human proteome. 24870542

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR A draft map of the human proteome. 24870542

2014
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR ClinVar: public archive of relationships among sequence variation and human phenotype. 24234437

2014
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319

2013
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319

2013
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Diversity of clathrin function: new tricks for an old protein. 22831640

2012
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. 22511880

2012
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 20206336

2010
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. 20206336

2010
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009
dbSNP: rs797044884
rs797044884
CLTC ; PTRH2
AAG 0.700 CausalMutation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake. 18762582

2008